Stiff-Person Spectrum Disorders Can Be Highly Underdiagnosed in Russia: a Retrospective Analysis (2376)

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Objective: We aimed to analyze clinical and immunologic features of a cohort of patients with stiff-person spectrum disorders (SPSD), who have been clinically managed by our group in recent years. Background: To date, the largest cohort of SPSD patients was analyzed in a work by Martinez-Hernandez et al. (2016) and included 121 subjects. No studies on SPSD have been conducted so far in Russia, and only single case reports have been published. Design/Methods: We conducted a retrospective analysis of health records of 11 patients diagnosed by our group with SPSD during the period of 2015–2018. All available demographic, clinical, and laboratory data were extracted from the health records together with the results of electromyographic and neuroimaging studies. Results: Out of 11 patients only 2 were men. The age-at-onset ranged from 35 to 69. The median of the time from the first symptom onset to the correct diagnosis was 28 months (13.5; 68). Nobody was referred with an initially diagnosed or suspected SPSD. The most frequent diagnostic ‘masks’ were ‘degenerative spine disease’ and ‘somatoform disorder’. In most cases, stiffness distribution was quite typical. Most common first complaints included stiffness in lumbar region and thighs as well as painful muscle spasms. Ten patients were found to have serum antibodies to GAD65, 1 patient was negative for serum antibodies to both GAD65 and amphiphysin. In 4 subjects, symptomatic therapy only was enough to sufficiently improve clinical status. Conclusions: The demographic data are consistent with that published on SPSD. The time period from the first symptom onset to the conclusive diagnosis was even slightly shorter than that in the study by Rakocevic et al. (2019). Clinical and electromyographic features are of great importance given that occasional SPSD cases may be antibody-negative. Disclosure: Dr. Seliverstov has nothing to disclose. Dr. Melnik has nothing to disclose. Dr. Fominykh has nothing to disclose. Dr. Skalnaya has nothing to disclose. Dr. Brylev has nothing to disclose.